- Email: [email protected]
Dataset for a case report of a homozygous PEX16 F332del mutation
Data in Brief 6 (2016) 722–727
Contents lists available at ScienceDirect
Data in Brief journal homepage: www.elsevier.com/locate/dib
Data article
Dataset for a case report of a homozygous PEX16 F332del mutation Carlos Bacino a,c, Yu-Hsin Chao a, Elaine Seto b,c, Tim Lotze b,c, Fan Xia a, Richard O. Jones d, Ann Moser d, Michael F. Wangler a,c,n a
Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA c Texas Children's Hospital, Houston, TX, USA d Kennedy Krieger Institute, Baltimore, MD, USA b
a r t i c l e i n f o
abstract
Article history: Received 6 October 2015 Received in revised form 1 December 2015 Accepted 8 December 2015 Available online 17 December 2015
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient's peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided. & 2016 Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Specifications Table Subject area More specific subject area Type of data
n
Genomics Peroxisomal Disorders Table 1 – Biochemical analytes Table 2 – Variants from exome sequencing
DOI of original article: http://dx.doi.org/10.1016/j.ymgmr.2015.09.001 Corresponding author at: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030TX, USA. E-mail address: [email protected] (M.F. Wangler).
http://dx.doi.org/10.1016/j.dib.2015.12.011 2352-3409/& 2016 Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
C. Bacino et al. / Data in Brief 6 (2016) 722–727
How data was acquired
Data format Experimental factors Experimental features Data source location Data accessibility
723
Fig. 1 – Clinical timeline and diagnostic workup Fig. 2 – Biochemical analytes Blood samples and a skin biopsy were obtained from the patient. DNA, plasma and cultured fibroblasts were analyzed in the context of the patient’s diagnostic course. LC–MS/MS, Enzyme activity using radioactive substrates, colorimetric assays, next-generation sequencing. Analyzed datasets, Excel, Tif files. Unique genotype (n ¼1) Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis. Genomic DNA was utilized for whole-exome sequencing. Houston Texas Date is included with this article
Value of the data
A profile of a patient with an atypical peroxisomal biogenesis disorder which can be compared with other patient's with these phenotypes.
Clinical review of diagnostic considerations for atypical peroxisomal biogenesis disorders. Comprehensive set of functional consequences of F332del allele of PEX16.
1. Data See Table 1. 1. Plasma VLCFA – plasma was collected at ages 10 years, 11 years and 22 years for VLCFA analysis. Values shown in ug/ml. C24/C22 and C26/C22 ratios shown. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 2. Fibroblast VLCFA – patient fibroblasts were cultured and analyzed for VLCFA analysis. Values shown are in mg/mg protein. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 3. Catalase Distribution – cultured cells were analyzed for Catalase Distribution (expressed in % soluble). A Z-score of the patient's sample is shown. 4. Plasmalogen synthesis assay from radiolabel enzyme assay is shown. 5. Plasma pipecolic acid (expressed in mmole/L). 6. Lyso-PC – LC MS/MS of lysophospholipids for the patient's blood sample at 22 years. 7. 14C oxidation assays for Phytanic and Pristanic acid (in % of the mean of controls) shown.
Table 1 Comprehensive plasma and fibroblast biochemical analysis. Analyte
Control fibroblasts
Zellweger syndrome
Patient@22 years
Phytanic acid oxidation (% mean of control value) Pristanic acid oxication (% mean of control Value)
100
5.7
73
100
4.9
156.9
724
C. Bacino et al. / Data in Brief 6 (2016) 722–727
Table 2 Candidate variants table from Whole-exome sequencing. Gene
Postion
Isoform
CTC1
Ch17:8134658
Nucleotide
Protein Zygosity Disease
Disease Comment inheritance
NM_025099 c.2605C 4T
p. Q869X
Het
AR
Father also heterozygous
SYNE1
Chr6:152730222 NM_033071 c.6542C 4T
p. T2181I
Het
AR
Mother also heterozygous
C5orf42
Chr5: 37185062 NM_023073 c.4309A 4G
AR
Novel variant
CLN3
CH16:28493901 uc010vcx.1
AR
rs146839771
VPS13A
Chr9:79902873
NM_033305 c.3356G4A
p. Het I1437V p. Het P195A p. Het G1119E
AR
rs144358567
PSAP
Ch10:73588801
NM_002778 c.409C 4G
AR
Novel variant
AR
Reported in ESP5400 and or Thousand Genomes Novel variant
c.583C 4G
MAN1B1 Ch9: 140002934 NM_016219 c.1991C4T
p.L137V Het p. T664M
Het
p.C16Y
Het
NPC1
Chr18:21166261 NM_000271 c.47G 4A
BRAT1
Chr7:2579447
NM_152743 c.1471G 4A
p. G491S
Het
BRAT1
Chr7: 2582935
NM_152743 c.826G 4A
p. D276N
Het
PEX16
Chr11:45931818 NM_004813 c.995_997delTCT p. Hom F332del
Cerebroretinal microangiopathy with calcifications and cysts Spinocerebellar ataxia, autosomal recessive 8 Joubert syndrome Ceroid lipofuscinosis Choreoacanthocytosis Combined SAP deficiency Mental retardation, autosomal recessive 15 Niemann–Pick disease, type D Rigidity and multifocal seizure syndrome, lethal neonatal Rigidity and multifocal seizure syndrome, lethal neonatal Zellweger syndrome, complementation 9
AR AR
Father also heterozygous
AR
Mother heterozygous, rs146546197
AR
Novel variant, both parents heterozygous
Fig. 1. Clinical timeline for the patient.
List of variants in disease-causing genes including heterozygous and homozygous variants which were verified by Sanger sequencing. The Gene, position, specific isoform, nucleotide, protein change (predicted), and zygosity are shown. AR ¼Autosomal recessive. Comments contain segregation information from the parents or other populations (Table 2). A clinical and diagnostic timeline for the patient showing clinical events and gene diagnostic tests. WES ¼Whole-exome sequencing (Figs. 1 and 2).
C. Bacino et al. / Data in Brief 6 (2016) 722–727
725
Fig. 2. Peroxisomal biochemical studies. (A) C26:0 Lyso PC measured by LC–MS–MS for the Patient's plasma compared to Normals and other disease populations. (B) Catalase Distributionin cultured fibroblasts (expressed as % soluble). (C) Bile acid measurements in pmoles/10ml plasma for the Patient, controls and other disease populations.
2. Experimental design, materials and methods 2.1. Ethics statement Informed consent for the research and for publication was obtained prior to participation for the subject who was recruited under an Institutional Review Board approved protocol at Baylor College of Medicine.
2.2. Peroxisomal biochemical studies Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis. – Plasma pipecolic acid was measured by electron capture negative ion mass fragmentography [1]. – Very-long-chain fatty acid levels and total lipid fatty acid profile were measured as described [2,3]. – The plasmalogen assay was performed using C14 radioactivity incorporation and H3 counts to measure microsomal plasmalogen steps [4].
726
C. Bacino et al. / Data in Brief 6 (2016) 722–727
– Fibroblast oxidation assays were performed using radioactive substrates to assay enzyme activity [5,6]. – Measurement of C26:0-lyso-PC was performed as described [7] and bile acid quantitation was performed by tandem mass spectrometry [8]. – Catalase distribution in cultured cells was performed and quantified (% soluble catalase) [9,10]. 2.3. Whole-exome capture, sequencing and data analysis The patient underwent WES through the Whole Genome Laboratory (https://www.bcm.edu/ research/medical-genetics-labs/index.cfm?PMID ¼21319) using methods described [11]. – Produced sequence reads were aligned to the GRCh37 (hg19) human genome reference assembly using the HGSC Mercury analysis pipeline (http://www.tinyurl.com/HGSC-Mercury/). Variants were determined and called using the Atlas2 [12] suite to produce a variant call file (VCF [13]). – High-quality variants were annotated using an in-house developed suite of annotation tools [14].
Acknowledgments The authors thank Ann Snowden at KKI for cell culture technical support. Cell culture work funded by the Intellectual and Developmental Disability Research Center 1 U54 HD079123-01A1 at KKI PI. Wayne Silverman funded by: NICHD, M.W. was supported by NIH K08NS076547 funded by NINDS, and funding from the Simmons Family Foundation Collaborative Research Fund and the Clayton Murphy Peroxisomal Disorders Research Fund at Baylor College of Medicine.
Appendix A. Supplementary material Supplementary data associated with this article can be found in the online version at http://dx.doi. org/10.1016/j.dib.2015.12.011.
References [1] R.M. Kok, L. Kaster, A.P. de Jong, B. Poll-The, J.M. Saudubray, C. Jakobs, Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography, Clin. Chim. Acta 168 (2) (1987) 143–152. [2] A.B. Moser, N. Kreiter, L. Bezman, S. Lu, G.V. Raymond, S. Naidu, H.W. Moser, Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls, Ann. Neurol. 45 (1) (1999) 100–110. [3] S.A. Lagerstedt, D.R. Hinrichs, S.M. Batt, M.J. Magera, P. Rinaldo, J.P. McConnell, Quantitative determination of plasma c8– c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders, Mol. Genet. Metab. 73 (1) (2001) 38–45. [4] A. Roscher, B. Molzer, H. Bernheimer, S. Stockler, I. Mutz, F. Paltauf, The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection, Pediatr. Res. 19 (9) (1985) 930–933. [5] A. Poulos, Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate, Clin. Genet. 20 (4) (1981) 247–253. [6] R.J. Wanders, S. Denis, J.P. Ruiter, R.B. Schutgens, C.W. van Roermund, B.S. Jacobs, Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts, J. Inherit. Metab. Dis. 18 (Suppl 1) (1995) S113–S124. [7] W.C. Hubbard, A.B. Moser, A.C. Liu, R.O. Jones, S.J. Steinberg, F. Lorey, S.R. Panny, R.F. Vogt Jr., D. Macaya, C.T. Turgeon, S. Tortorelli, G.V. Raymond, Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC–MS/MS) method, Mol. Genet. Metab. 97 (3) (2009) 212–220. [8] D.W. Johnson, H.J. ten Brink, R.C. Schuit, C. Jakobs, Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry, J. Lipid Res. 42 (1) (2001) 9–16. [9] M.C. McGuinness, A.B. Moser, B.T. Poll-The, P.A. Watkins, Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation, Biochem. Med. Metab. Biol. 49 (2) (1993) 228–242. [10] P.A. Watkins, M.C. McGuinness, G.V. Raymond, B.A. Hicks, J.M. Sisk, A.B. Moser, H.W. Moser, Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies, Ann. Neurol. 38 (3) (1995) 472–477.
C. Bacino et al. / Data in Brief 6 (2016) 722–727
727
[11] J.R. Lupski, C. Gonzaga-Jauregui, Y. Yang, M.N. Bainbridge, S. Jhangiani, C.J. Buhay, C.L. Kovar, M. Wang, A.C. Hawes, J. G. Reid, C. Eng, D.M. Muzny, R.A. Gibbs, Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot–Marie–Tooth neuropathy, Genome Med. 5 (6) (2013) 57. [12] P. Danecek, A. Auton, G. Abecasis, C.A. Albers, E. Banks, M.A. DePristo, R.E. Handsaker, G. Lunter, G.T. Marth, S.T. Sherry, G. McVean, R. Durbin, The variant call format and VCFtools, Bioinformatics 27 (15) (2011) 2156–2158. [13] M.N. Bainbridge, W. Wiszniewski, D.R. Murdock, J. Friedman, C. Gonzaga-Jauregui, I. Newsham, J.G. Reid, J.K. Fink, M. B. Morgan, M.C. Gingras, D.M. Muzny, L.D. Hoang, S. Yousaf, J.R. Lupski, R.A. Gibbs, Whole-genome sequencing for optimized patient management, Sci. Transl. Med. 3 (87) (2011) 87re3. [14] A. Untergasser, I. Cutcutache, T. Koressaar, J. Ye, B.C. Faircloth, M. Remm, S.G. Rozen, Primer3 – new capabilities and interfaces, Nucleic Acids Res. 40 (15) (2012) e115.
Contents lists available at ScienceDirect
Data in Brief journal homepage: www.elsevier.com/locate/dib
Data article
Dataset for a case report of a homozygous PEX16 F332del mutation Carlos Bacino a,c, Yu-Hsin Chao a, Elaine Seto b,c, Tim Lotze b,c, Fan Xia a, Richard O. Jones d, Ann Moser d, Michael F. Wangler a,c,n a
Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA c Texas Children's Hospital, Houston, TX, USA d Kennedy Krieger Institute, Baltimore, MD, USA b
a r t i c l e i n f o
abstract
Article history: Received 6 October 2015 Received in revised form 1 December 2015 Accepted 8 December 2015 Available online 17 December 2015
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient's peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided. & 2016 Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Specifications Table Subject area More specific subject area Type of data
n
Genomics Peroxisomal Disorders Table 1 – Biochemical analytes Table 2 – Variants from exome sequencing
DOI of original article: http://dx.doi.org/10.1016/j.ymgmr.2015.09.001 Corresponding author at: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030TX, USA. E-mail address: [email protected] (M.F. Wangler).
http://dx.doi.org/10.1016/j.dib.2015.12.011 2352-3409/& 2016 Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
C. Bacino et al. / Data in Brief 6 (2016) 722–727
How data was acquired
Data format Experimental factors Experimental features Data source location Data accessibility
723
Fig. 1 – Clinical timeline and diagnostic workup Fig. 2 – Biochemical analytes Blood samples and a skin biopsy were obtained from the patient. DNA, plasma and cultured fibroblasts were analyzed in the context of the patient’s diagnostic course. LC–MS/MS, Enzyme activity using radioactive substrates, colorimetric assays, next-generation sequencing. Analyzed datasets, Excel, Tif files. Unique genotype (n ¼1) Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis. Genomic DNA was utilized for whole-exome sequencing. Houston Texas Date is included with this article
Value of the data
A profile of a patient with an atypical peroxisomal biogenesis disorder which can be compared with other patient's with these phenotypes.
Clinical review of diagnostic considerations for atypical peroxisomal biogenesis disorders. Comprehensive set of functional consequences of F332del allele of PEX16.
1. Data See Table 1. 1. Plasma VLCFA – plasma was collected at ages 10 years, 11 years and 22 years for VLCFA analysis. Values shown in ug/ml. C24/C22 and C26/C22 ratios shown. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 2. Fibroblast VLCFA – patient fibroblasts were cultured and analyzed for VLCFA analysis. Values shown are in mg/mg protein. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 3. Catalase Distribution – cultured cells were analyzed for Catalase Distribution (expressed in % soluble). A Z-score of the patient's sample is shown. 4. Plasmalogen synthesis assay from radiolabel enzyme assay is shown. 5. Plasma pipecolic acid (expressed in mmole/L). 6. Lyso-PC – LC MS/MS of lysophospholipids for the patient's blood sample at 22 years. 7. 14C oxidation assays for Phytanic and Pristanic acid (in % of the mean of controls) shown.
Table 1 Comprehensive plasma and fibroblast biochemical analysis. Analyte
Control fibroblasts
Zellweger syndrome
Patient@22 years
Phytanic acid oxidation (% mean of control value) Pristanic acid oxication (% mean of control Value)
100
5.7
73
100
4.9
156.9
724
C. Bacino et al. / Data in Brief 6 (2016) 722–727
Table 2 Candidate variants table from Whole-exome sequencing. Gene
Postion
Isoform
CTC1
Ch17:8134658
Nucleotide
Protein Zygosity Disease
Disease Comment inheritance
NM_025099 c.2605C 4T
p. Q869X
Het
AR
Father also heterozygous
SYNE1
Chr6:152730222 NM_033071 c.6542C 4T
p. T2181I
Het
AR
Mother also heterozygous
C5orf42
Chr5: 37185062 NM_023073 c.4309A 4G
AR
Novel variant
CLN3
CH16:28493901 uc010vcx.1
AR
rs146839771
VPS13A
Chr9:79902873
NM_033305 c.3356G4A
p. Het I1437V p. Het P195A p. Het G1119E
AR
rs144358567
PSAP
Ch10:73588801
NM_002778 c.409C 4G
AR
Novel variant
AR
Reported in ESP5400 and or Thousand Genomes Novel variant
c.583C 4G
MAN1B1 Ch9: 140002934 NM_016219 c.1991C4T
p.L137V Het p. T664M
Het
p.C16Y
Het
NPC1
Chr18:21166261 NM_000271 c.47G 4A
BRAT1
Chr7:2579447
NM_152743 c.1471G 4A
p. G491S
Het
BRAT1
Chr7: 2582935
NM_152743 c.826G 4A
p. D276N
Het
PEX16
Chr11:45931818 NM_004813 c.995_997delTCT p. Hom F332del
Cerebroretinal microangiopathy with calcifications and cysts Spinocerebellar ataxia, autosomal recessive 8 Joubert syndrome Ceroid lipofuscinosis Choreoacanthocytosis Combined SAP deficiency Mental retardation, autosomal recessive 15 Niemann–Pick disease, type D Rigidity and multifocal seizure syndrome, lethal neonatal Rigidity and multifocal seizure syndrome, lethal neonatal Zellweger syndrome, complementation 9
AR AR
Father also heterozygous
AR
Mother heterozygous, rs146546197
AR
Novel variant, both parents heterozygous
Fig. 1. Clinical timeline for the patient.
List of variants in disease-causing genes including heterozygous and homozygous variants which were verified by Sanger sequencing. The Gene, position, specific isoform, nucleotide, protein change (predicted), and zygosity are shown. AR ¼Autosomal recessive. Comments contain segregation information from the parents or other populations (Table 2). A clinical and diagnostic timeline for the patient showing clinical events and gene diagnostic tests. WES ¼Whole-exome sequencing (Figs. 1 and 2).
C. Bacino et al. / Data in Brief 6 (2016) 722–727
725
Fig. 2. Peroxisomal biochemical studies. (A) C26:0 Lyso PC measured by LC–MS–MS for the Patient's plasma compared to Normals and other disease populations. (B) Catalase Distributionin cultured fibroblasts (expressed as % soluble). (C) Bile acid measurements in pmoles/10ml plasma for the Patient, controls and other disease populations.
2. Experimental design, materials and methods 2.1. Ethics statement Informed consent for the research and for publication was obtained prior to participation for the subject who was recruited under an Institutional Review Board approved protocol at Baylor College of Medicine.
2.2. Peroxisomal biochemical studies Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis. – Plasma pipecolic acid was measured by electron capture negative ion mass fragmentography [1]. – Very-long-chain fatty acid levels and total lipid fatty acid profile were measured as described [2,3]. – The plasmalogen assay was performed using C14 radioactivity incorporation and H3 counts to measure microsomal plasmalogen steps [4].
726
C. Bacino et al. / Data in Brief 6 (2016) 722–727
– Fibroblast oxidation assays were performed using radioactive substrates to assay enzyme activity [5,6]. – Measurement of C26:0-lyso-PC was performed as described [7] and bile acid quantitation was performed by tandem mass spectrometry [8]. – Catalase distribution in cultured cells was performed and quantified (% soluble catalase) [9,10]. 2.3. Whole-exome capture, sequencing and data analysis The patient underwent WES through the Whole Genome Laboratory (https://www.bcm.edu/ research/medical-genetics-labs/index.cfm?PMID ¼21319) using methods described [11]. – Produced sequence reads were aligned to the GRCh37 (hg19) human genome reference assembly using the HGSC Mercury analysis pipeline (http://www.tinyurl.com/HGSC-Mercury/). Variants were determined and called using the Atlas2 [12] suite to produce a variant call file (VCF [13]). – High-quality variants were annotated using an in-house developed suite of annotation tools [14].
Acknowledgments The authors thank Ann Snowden at KKI for cell culture technical support. Cell culture work funded by the Intellectual and Developmental Disability Research Center 1 U54 HD079123-01A1 at KKI PI. Wayne Silverman funded by: NICHD, M.W. was supported by NIH K08NS076547 funded by NINDS, and funding from the Simmons Family Foundation Collaborative Research Fund and the Clayton Murphy Peroxisomal Disorders Research Fund at Baylor College of Medicine.
Appendix A. Supplementary material Supplementary data associated with this article can be found in the online version at http://dx.doi. org/10.1016/j.dib.2015.12.011.
References [1] R.M. Kok, L. Kaster, A.P. de Jong, B. Poll-The, J.M. Saudubray, C. Jakobs, Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography, Clin. Chim. Acta 168 (2) (1987) 143–152. [2] A.B. Moser, N. Kreiter, L. Bezman, S. Lu, G.V. Raymond, S. Naidu, H.W. Moser, Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls, Ann. Neurol. 45 (1) (1999) 100–110. [3] S.A. Lagerstedt, D.R. Hinrichs, S.M. Batt, M.J. Magera, P. Rinaldo, J.P. McConnell, Quantitative determination of plasma c8– c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders, Mol. Genet. Metab. 73 (1) (2001) 38–45. [4] A. Roscher, B. Molzer, H. Bernheimer, S. Stockler, I. Mutz, F. Paltauf, The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection, Pediatr. Res. 19 (9) (1985) 930–933. [5] A. Poulos, Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate, Clin. Genet. 20 (4) (1981) 247–253. [6] R.J. Wanders, S. Denis, J.P. Ruiter, R.B. Schutgens, C.W. van Roermund, B.S. Jacobs, Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts, J. Inherit. Metab. Dis. 18 (Suppl 1) (1995) S113–S124. [7] W.C. Hubbard, A.B. Moser, A.C. Liu, R.O. Jones, S.J. Steinberg, F. Lorey, S.R. Panny, R.F. Vogt Jr., D. Macaya, C.T. Turgeon, S. Tortorelli, G.V. Raymond, Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC–MS/MS) method, Mol. Genet. Metab. 97 (3) (2009) 212–220. [8] D.W. Johnson, H.J. ten Brink, R.C. Schuit, C. Jakobs, Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry, J. Lipid Res. 42 (1) (2001) 9–16. [9] M.C. McGuinness, A.B. Moser, B.T. Poll-The, P.A. Watkins, Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation, Biochem. Med. Metab. Biol. 49 (2) (1993) 228–242. [10] P.A. Watkins, M.C. McGuinness, G.V. Raymond, B.A. Hicks, J.M. Sisk, A.B. Moser, H.W. Moser, Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies, Ann. Neurol. 38 (3) (1995) 472–477.
C. Bacino et al. / Data in Brief 6 (2016) 722–727
727
[11] J.R. Lupski, C. Gonzaga-Jauregui, Y. Yang, M.N. Bainbridge, S. Jhangiani, C.J. Buhay, C.L. Kovar, M. Wang, A.C. Hawes, J. G. Reid, C. Eng, D.M. Muzny, R.A. Gibbs, Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot–Marie–Tooth neuropathy, Genome Med. 5 (6) (2013) 57. [12] P. Danecek, A. Auton, G. Abecasis, C.A. Albers, E. Banks, M.A. DePristo, R.E. Handsaker, G. Lunter, G.T. Marth, S.T. Sherry, G. McVean, R. Durbin, The variant call format and VCFtools, Bioinformatics 27 (15) (2011) 2156–2158. [13] M.N. Bainbridge, W. Wiszniewski, D.R. Murdock, J. Friedman, C. Gonzaga-Jauregui, I. Newsham, J.G. Reid, J.K. Fink, M. B. Morgan, M.C. Gingras, D.M. Muzny, L.D. Hoang, S. Yousaf, J.R. Lupski, R.A. Gibbs, Whole-genome sequencing for optimized patient management, Sci. Transl. Med. 3 (87) (2011) 87re3. [14] A. Untergasser, I. Cutcutache, T. Koressaar, J. Ye, B.C. Faircloth, M. Remm, S.G. Rozen, Primer3 – new capabilities and interfaces, Nucleic Acids Res. 40 (15) (2012) e115.